1. Mendelian
  2. Genes
  3. DIP2B

DIP2B gene related symptoms and diseases

All the information presented here about the DIP2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to DIP2B gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Behavioral abnormality Very Common - Between 80% and 100% cases
Hyperkeratosis Very Common - Between 80% and 100% cases
Arthrogryposis multiplex congenita Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with DIP2B gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Pulmonic stenosis
  • Erythroderma

Rare diseases associated to DIP2B gene

Here you will find a list of rare diseases related to the DIP2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MENTAL RETARDATION, FRA12A TYPE

Description

FRA12A is a folate-sensitive chromosomal fragile site prone to breakage. No consistent phenotype has been observed with FRA12A, and it can be inherited without phenotypic effect (Berg et al., 2000). However, mental retardation with or without other anomalies has been described in patients with over 40% of cells expressing FRA12A (Winnepenninckx et al., 2007).

Most common symptoms of MENTAL RETARDATION, FRA12A TYPE

  • Intellectual disability
  • Seizures
  • Behavioral abnormality
  • Hyperkeratosis
  • Arthrogryposis multiplex congenita


More info about MENTAL RETARDATION, FRA12A TYPE

SOURCES: MESH OMIM


Potential gene panels for DIP2B gene

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

More info about this panel
Germany.

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel
United States.

DIP2B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DIP2B gene.

More info about this panel
United States.

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NARS2 SLC6A2 F2 PDGFRL MPC1 GBA PTH1R